rs1064795104, EXOC6B

N. diseases: 17
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cutis marmorata
CUI: C0263401
Disease: Cutis marmorata
9 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
Eczema
CUI: C0013595
Disease: Eczema
368 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
Encephalopathy, CTCAE 3.0
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
24 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
Facial asymmetry
CUI: C1306710
Disease: Facial asymmetry
13 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
Myopia
CUI: C0027092
Disease: Myopia
167 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
83 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
Short neck
CUI: C0521525
Disease: Short neck
29 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
Short stature
CUI: C0349588
Disease: Short stature
292 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
Torticollis
CUI: C0040485
Disease: Torticollis
10 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
19 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014